Collagen, type XII, alpha 1
mammalian protein found in Homo sapiens
Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1 gene.
This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix.
Alternatively spliced transcript variants encoding different isoforms have been identified.
Clinical significance
Mutations in COL12A1 are known to cause the following conditions:
Bethlem myopathy 2 (also known as Ehlers–Danlos syndrome myopathic type);
Ullrich congenital muscular dystrophy 2.
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